N6D (p.Asn6Asp) variant of PTCH1 (Protein patched homolog 1)
N6D (p.Asn6Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gorlin syndrome; Holoprosencephaly 7; Basal cell nevus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
N6D (p.Asn6Asp) variant details
- p.Asn6Asp
- rs1587701202
- ClinGen CA374121734
- ClinVar RCV000806251
- ClinVar RCV002397641
- Conflicting interpretations
- Gorlin syndrome; Holoprosencephaly 7; Basal cell nevus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.63
- PolyPhen-2 0.32
- SIFT 0.33
- MutPred 0.09
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Holoprosencephaly 7; Basal cell nevus syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)